Incidental Mutation 'R1393:Anxa5'
| ID |
162691 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Anxa5
|
| Ensembl Gene |
ENSMUSG00000027712 |
| Gene Name |
annexin A5 |
| Synonyms |
annexin V, Anx5 |
| MMRRC Submission |
039455-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1393 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
36503072-36530036 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 36507658 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 194
(T194I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029266
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029266]
[ENSMUST00000199478]
|
| AlphaFold |
P48036 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029266
AA Change: T194I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000029266
Gene: ENSMUSG00000027712
AA Change: T194I
| Domain | Start | End | E-Value | Type |
|---|
|
ANX
|
30 |
82 |
1.65e-24 |
SMART |
|
ANX
|
102 |
154 |
4.52e-22 |
SMART |
|
ANX
|
186 |
238 |
3.54e-15 |
SMART |
|
ANX
|
261 |
313 |
4.52e-22 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196097
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000199478
AA Change: T99I
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000143650
Gene: ENSMUSG00000027712
AA Change: T99I
| Domain | Start | End | E-Value | Type |
|---|
|
ANX
|
30 |
90 |
4.8e-5 |
SMART |
|
ANX
|
91 |
137 |
4.9e-9 |
SMART |
|
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 95.1%
- 20x: 88.7%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the annexin family of calcium-dependent phospholipid binding proteins some of which have been implicated in membrane-related events along exocytotic and endocytotic pathways. Annexin 5 is a phospholipase A2 and protein kinase C inhibitory protein with calcium channel activity and a potential role in cellular signal transduction, inflammation, growth and differentiation. Annexin 5 has also been described as placental anticoagulant protein I, vascular anticoagulant-alpha, endonexin II, lipocortin V, placental protein 4 and anchorin CII. The gene spans 29 kb containing 13 exons, and encodes a single transcript of approximately 1.6 kb and a protein product with a molecular weight of about 35 kDa. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice are viable, fertile, and develop normally. Bone development and maintenance are normal, as are clinical-chemical parameters. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcf3 |
A |
G |
16: 20,379,180 (GRCm39) |
N682S |
probably benign |
Het |
| Acta2 |
G |
A |
19: 34,219,192 (GRCm39) |
R337C |
probably damaging |
Het |
| Atf1 |
A |
G |
15: 100,130,647 (GRCm39) |
T6A |
possibly damaging |
Het |
| Atg4d |
T |
A |
9: 21,182,129 (GRCm39) |
Y317N |
probably damaging |
Het |
| Bcl6 |
A |
G |
16: 23,796,316 (GRCm39) |
V37A |
probably damaging |
Het |
| Bsn |
T |
C |
9: 107,987,716 (GRCm39) |
|
probably benign |
Het |
| Cd300ld2 |
G |
A |
11: 114,903,404 (GRCm39) |
|
probably benign |
Het |
| Cdh15 |
G |
C |
8: 123,584,234 (GRCm39) |
E112Q |
probably damaging |
Het |
| Chad |
A |
T |
11: 94,456,140 (GRCm39) |
M73L |
probably benign |
Het |
| Copz1 |
A |
G |
15: 103,203,171 (GRCm39) |
N95S |
probably benign |
Het |
| Cwf19l2 |
T |
C |
9: 3,456,818 (GRCm39) |
V717A |
probably benign |
Het |
| Dock3 |
C |
T |
9: 106,788,548 (GRCm39) |
G140R |
probably damaging |
Het |
| Gm14226 |
A |
T |
2: 154,866,111 (GRCm39) |
S23C |
probably damaging |
Het |
| Gria2 |
T |
C |
3: 80,614,405 (GRCm39) |
E545G |
probably damaging |
Het |
| Nxpe2 |
T |
C |
9: 48,237,914 (GRCm39) |
T114A |
probably damaging |
Het |
| Or6c215 |
A |
G |
10: 129,637,801 (GRCm39) |
F198L |
probably benign |
Het |
| Patj |
G |
A |
4: 98,312,648 (GRCm39) |
V329I |
probably benign |
Het |
| Ptcd3 |
T |
A |
6: 71,866,605 (GRCm39) |
T404S |
probably benign |
Het |
| Rasa1 |
A |
G |
13: 85,371,641 (GRCm39) |
C867R |
probably damaging |
Het |
| Rps24 |
A |
G |
14: 24,541,830 (GRCm39) |
T6A |
probably damaging |
Het |
| Rsad2 |
T |
C |
12: 26,506,376 (GRCm39) |
S15G |
probably damaging |
Het |
| Serpina12 |
T |
C |
12: 104,004,009 (GRCm39) |
I208V |
possibly damaging |
Het |
| Spock1 |
A |
T |
13: 58,055,268 (GRCm39) |
L45Q |
probably damaging |
Het |
| Stat3 |
A |
T |
11: 100,779,591 (GRCm39) |
|
probably null |
Het |
| Zfp810 |
T |
C |
9: 22,191,810 (GRCm39) |
D90G |
probably benign |
Het |
|
| Other mutations in Anxa5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00505:Anxa5
|
APN |
3 |
36,511,646 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
IGL02125:Anxa5
|
APN |
3 |
36,506,413 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02686:Anxa5
|
APN |
3 |
36,503,504 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL03268:Anxa5
|
APN |
3 |
36,504,828 (GRCm39) |
missense |
probably benign |
|
|
R0131:Anxa5
|
UTSW |
3 |
36,504,821 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0131:Anxa5
|
UTSW |
3 |
36,504,821 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0132:Anxa5
|
UTSW |
3 |
36,504,821 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0365:Anxa5
|
UTSW |
3 |
36,511,618 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0376:Anxa5
|
UTSW |
3 |
36,514,637 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1424:Anxa5
|
UTSW |
3 |
36,506,441 (GRCm39) |
splice site |
probably null |
|
|
R1626:Anxa5
|
UTSW |
3 |
36,516,130 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1778:Anxa5
|
UTSW |
3 |
36,519,480 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1873:Anxa5
|
UTSW |
3 |
36,503,551 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3861:Anxa5
|
UTSW |
3 |
36,504,807 (GRCm39) |
missense |
probably benign |
0.36 |
|
R4076:Anxa5
|
UTSW |
3 |
36,504,529 (GRCm39) |
missense |
probably benign |
|
|
R5871:Anxa5
|
UTSW |
3 |
36,506,398 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6018:Anxa5
|
UTSW |
3 |
36,504,807 (GRCm39) |
missense |
probably benign |
0.36 |
|
R6056:Anxa5
|
UTSW |
3 |
36,504,840 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6081:Anxa5
|
UTSW |
3 |
36,519,436 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6522:Anxa5
|
UTSW |
3 |
36,519,451 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7748:Anxa5
|
UTSW |
3 |
36,519,480 (GRCm39) |
missense |
probably damaging |
0.97 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTCTGACAGTGAAGAGACTGCGAAG -3'
(R):5'- AGCATCTCTCCTGGAAGATGGGAC -3'
Sequencing Primer
(F):5'- CGAAGGACATCTCGTTTGC -3'
(R):5'- GGGACATTCCAGTCAACATTTGC -3'
|
| Posted On |
2014-03-17 |
Incidental Mutation